No paralogue variants have been mapped to residue 1778 for RYR1.
RYR1 | PPGRSTENGHPRHGLPGVGVTTSLRPPHHF>S<PPCFVAALPAAGAAEAPARLSPAIPLEALR | 1808 |
RYR2 | PD------ENKKHGLPGIGLSTSLRPRMQF>S<SPSFVSI------SNECYQYSPEFPLDILK | 1788 |
RYR3 | PD------ESKRHGLPGVGLRTCLKPGFRF>S<TPCFVVT------GEDHQKQSPEIPLESLR | 1692 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.S1778L | c.5333C>T | Putative Benign | SIFT: Polyphen: |